Canonical Allele Identifier: CA395954766

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385376C>A (hg19) ; chr16:g.56351464C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351464C>A , CM000678.2:g.56351464C>A	GRCh38
NC_000016.9:g.56385376C>A , CM000678.1:g.56385376C>A	GRCh37
NC_000016.8:g.54942877C>A	NCBI36
NG_042800.1:g.165126C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.804C>A MANE Select	ENSP00000262493.6:p.Phe268Leu
ENST00000562316.6:c.471C>A	ENSP00000457238.2:p.Phe157Leu
ENST00000564727.2:c.108C>A	ENSP00000454971.2:p.Phe36Leu
ENST00000568375.2:c.116-3402C>A
ENST00000638185.1:n.1019C>A
ENST00000638210.1:n.1104C>A
ENST00000638705.1:c.804C>A	ENSP00000491223.1:p.Phe268Leu
ENST00000638836.1:n.714C>A
ENST00000639055.1:n.1525C>A
ENST00000639251.1:n.705C>A
ENST00000639268.1:c.439C>A
ENST00000639341.1:c.329C>A
ENST00000639770.1:c.842C>A	ENSP00000491999.1:n.842C>A
ENST00000640390.1:n.734C>A
ENST00000640469.1:c.168C>A	ENSP00000491875.1:p.Phe56Leu
ENST00000640560.1:n.580C>A
ENST00000640893.1:c.*202C>A	ENSP00000492677.1:n.*202C>A
ENST00000262493.10:c.804C>A	ENSP00000262493.6:p.Phe268Leu
ENST00000564727.1:c.24C>A	ENSP00000454971.1:p.Phe8Leu
ENST00000568375.1:n.116-3402C>A
NM_020988.2:c.804C>A	NP_066268.1:p.Phe268Leu
XM_011523003.1:c.678C>A	XP_011521305.1:p.Phe226Leu
XM_011523003.3:c.678C>A	XP_011521305.1:p.Phe226Leu
NM_020988.3:c.804C>A MANE Select	NP_066268.1:p.Phe268Leu